Genotype-phenotype correlation at codon 1740 of SETD2
Authors: Rachel Rabin; Alireza Radmanesh; Ian A Glass; William B Dobyns; Kimberly A Aldinger; Joseph T Shieh; Shelby Romoser; Hannah Bombei; Leah Dowsett; Pamela Trapane; John A Bernat; Janice Baker; Nancy J Mendelsohn; Bernt Popp; Manuela Siekmeyer; Ina Sorge; Francis Hugh Sansbury; Patrick Watts; Nicola C Foulds; Jennifer Burton; Jane A Hurst; George Hoganson; Lara Menzies; Deborah Osio; Larissa Kerecuk; Jan M Cobben; Khadijé Jizi; Sebastien Jacquemont; Stacey A Bélanger; Katharina Löhner; Hermine E Veenstra-Knol; Henny H Lemmink; Jennifer Keller-Ramey; Ingrid M Wentzensen; Sumit Punj; Kirsty McWalter; Jerica Lenberg; Katarzyna A Ellsworth; Kelly Radtke; Schahram Akbarian; John Pappas
Collaborators: Birmingham Women's and Children's NHS Foundation Trust; Children's Hospital and Clinics of Minnesota; Emma Children Hospital; GeneDx; Great Ormond Street Hospital for Children NHS Foundation Trust; Icahn School of Medicine at Mount Sinai; Leipzig University; Northwick Park Hospital; NYU Orthopedic Hospital; NYU School of Medicine; Rady Children's Hospital San Diego; Sainte Justine Hospital; Seattle Children's Research Institute; University Hospital of Wales; University Medical Center Groningen; University of California, San Francisco; University of Florida College of Medicine-Jacksonville; University of Hawai'i John A. Burns School of Medicine; University of Illinois College of Medicine at Peoria; University of Iowa; University of Montreal; University of Southampton; University of Washington
Journal: American journal of medical genetics. Part A